ID   LUMCi039-A
SY   LQT1-1781G/A hiPSC; iPSC LQT1R594Q; LUMC0021iKCNQ-30
DR   BioSamples; SAMEA8307098
DR   hPSCreg; LUMCi039-A
DR   Wikidata; Q107115879
RX   PubMed=27470144;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Arg594Gln (c.1781G>A); ClinVar=VCV000053018; Zygosity=Heterozygous (PubMed=27470144).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 6
RX   PubMed=27470144; DOI=10.15252/emmm.201606260;
RA   Sala L., Yu Z.-Y., Ward-van Oostwaard D., van Veldhoven J.P.D.,
RA   Moretti A., Laugwitz K.-L., Mummery C.L., IJzerman A.P., Bellin M.;
RT   "A new hERG allosteric modulator rescues genetic and drug-induced
RT   long-QT syndrome phenotypes in cardiomyocytes from isogenic pairs of
RT   patient induced pluripotent stem cells.";
RL   EMBO Mol. Med. 8:1065-1081(2016).